ASS1 mutation leading to citrullinemia I in a Chinese Han family

Objective: To investigate potential mutation of the ASS1 gene in a male infant with acute citrullinemia type I.

Methods: Genomic DNA was prepared from peripheral blood samples of the family members. Mutation analysis of the 14 ASS1 exons was carried out by PCR and direct DNA sequencing.

Results: A homozygous missense mutation of c.970G>A located in exon 13, which results in p.G324S, was identified in the child. Sequencing of the parents showed a heterozygous status for the same mutation.

Conclusions: A missense mutation of c.970G>A in the ASS1 gene is responsible for the pathogenesis of the disease in the infant.